A lot of research goes into our stories. Here are some of the resources we used to put together our story on the diagnosis of rare developmental disorders.
There are between 6,000 and 8,000 known rare diseases, many of which affect children’s development. One pioneering project is showing how, in the 17 years since the first draft of the human genome, our genes are giving up their secrets and bringing hope to parents around the world. In this feature for Mosaic, Linda Geddes explores how scientists are untangling the mystery of developmental disorders.
If you want to dive deeper into this topic, here’s some further reading. We’ve broken things down into key subtopics, but otherwise these links aren’t listed in any particular order – so feel free to dip in and out.
The Deciphering Developmental Disorders (DDD) study
The DDD study uses new genetic technologies to try and understand why patients get developmental disorders.
The DDD study website is aimed primarily at families taking part in the study; however, it also offers an insight into the study’s research, data collection and ethics.*
This 2011 article was written near the outset of the DDD study before any results were obtained, providing a useful summary of the project and what it sought to achieve.
Helen Firth played a significant role in initiating a more systematic application of genome sequencing technology to the field of rare diseases. In this 2018 paper, Firth and her colleagues give an overview of the “immature but rapidly evolving field” of paediatric genomics.
The PURA Syndrome Foundation offers support to families coping with the effects of the condition. Its website includes information on symptoms, tips for how to get involved in fundraising and links to further clinical papers on PURA syndrome.
This 2014 study in the Journal of Medical Genetics gives evidence for the role of PURA in causing neurodevelopmental delay.
The 100,000 Genomes Project
The 100,000 Genomes Project aims to sequence 100,000 whole genomes from NHS patients with rare diseases or common cancers.
The 100,000 Genomes Project website gives an introduction to genomics and the latest news, as well as outlining the challenges that might be faced.
The DDD study has applied for access to the 100,000 Genomes Project’s data, which would increase its likelihood of identifying anomalies in participants’ DNA.
While the DDD study does not report ‘secondary findings’ – for instance, whether a patient has a genetic predisposition to other diseases – the 100,000 Genomes Project offers participants access to such information. This 2015 Guardian report considers the risk involved if this information is not kept private.
The NHS Genomic Medicine Service, launching in October 2018, will provide genome sequencing to people with undiagnosed rare diseases and those suffering from cancer. This 2017 NHS board paper summarises how NHS England plans to build a genomic medicine service, following on from the 100,000 Genomes Project.
This 2017 paper discusses the use of DNA sequencing for early cancer detection.
This TED Talk by George Vasmatzis explains that genomic technology will help scientists better understand “how cancer thinks”. One example is that, through using genomics, it’s possible to work out far quicker whether a patient is responding to therapy; as a result, unsuccessful treatments can be ended sooner, saving time and resources.
Read more Mosaic stories on genetics
Science, mostly, progresses iteratively. But every now and then, a discovery will be made – often incidental to the main aim of the research – that is entirely unexpected. In ‘You won’t believe these three unexpected discoveries – and neither did the scientists who made them’, researchers at one of the UK’s leading genetics centres tell us about their serendipitous findings.
Bringing genetics into medicine leads to more accuracy, better diagnosis and personalised treatment – but not for everyone. In ‘The uncertain future of genetic testing’, Carrie Arnold meets families for whom gene testing has led only to unanswered questions.
In ‘Genetics: risk or destiny?’, Information is Beautiful Studio take a visual approach to exploring the complex relationships between our health, genes, lifestyle and environment.
When Kim Goodsell discovered that she had two extremely rare genetic diseases, she taught herself genetics to help find out why. In ‘DIY diagnosis: how an extreme athlete uncovered her genetic flaw’, Ed Yong tells her story.
*The DDD study is closed to recruitment, but further funded work is continuing to search for diagnoses for patients already recruited. Any new diagnoses will be fed back to recruiting clinicians and then to participants.